The most common nosology groups in our study were the FGFR3 chondrodysplasia group (15/38, 39%), osteogenesis imperfecta and decreased bone density group (9/38, 24%), and ciliopathies with major skeletal involvement (5/38, 13%), consistent with the results of other studies [13, 14]. This evidence concerns the gene FGFR3 and ciliopathy.